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@ARTICLE{Lu:178220,
      author       = {Y. Lu$^*$ and M. Gentiluomo and A. Macauda$^*$ and D.
                      Gioffreda and M. Gazouli and M. C. Petrone and D. Kelemen
                      and L. Ginocchi and L. Morelli and K. Papiris and W.
                      Greenhalf and J. R. Izbicki and V. Kiudelis and B.
                      Mohelníková-Duchoňová and B. Bueno-de-Mesquita and P.
                      Vodicka and H. Brenner$^*$ and M. K. Diener and R. Pezzilli
                      and A. Ivanauskas and R. Salvia and A. Szentesi and M. N.
                      Aoki and B. C. Németh and C. Sperti and K. Jamroziak and R.
                      Chammas and M. Oliverius and L. Archibugi and S. Ermini and
                      J. Novák and J. Kupcinskas and O. Strouhal and P. Souček
                      and G. M. Cavestro and A. C. Milanetto and G. Vanella and J.
                      P. Neoptolemos and G. E. Theodoropoulos and H. W. M. van
                      Laarhoven and A. Mambrini and S. Moz and Z. Kala and M.
                      Loveček and D. Basso and F. G. Uzunoglu and T. Hackert and
                      S. G. G. Testoni and V. Hlaváč and A. Andriulli and M.
                      Lucchesi and F. Tavano and S. Carrara and P. Hegyi and P. G.
                      Arcidiacono and O. R. Busch and R. T. Lawlor and M. Puzzono
                      and U. Boggi and F. Guo$^*$ and E. Małecka-Panas and G.
                      Capurso and S. Landi and R. Talar-Wojnarowska and O. Strobel
                      and X. Gao$^*$ and Y. Vashist and D. Campa and F.
                      Canzian$^*$},
      title        = {{I}dentification of {R}ecessively {I}nherited {G}enetic
                      {V}ariants {P}otentially {L}inked to {P}ancreatic {C}ancer
                      {R}isk.},
      journal      = {Frontiers in oncology},
      volume       = {11},
      issn         = {2234-943X},
      address      = {Lausanne},
      publisher    = {Frontiers Media},
      reportid     = {DKFZ-2021-03217},
      pages        = {771312},
      year         = {2021},
      note         = {#EA:C055#LA:C055#},
      abstract     = {Although 21 pancreatic cancer susceptibility loci have been
                      identified in individuals of European ancestry through
                      genome-wide association studies (GWASs), much of the
                      heritability of pancreatic cancer risk remains unidentified.
                      A recessive genetic model could be a powerful tool for
                      identifying additional risk variants. To discover
                      recessively inherited pancreatic cancer risk loci, we
                      performed a re-analysis of the largest pancreatic cancer
                      GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and
                      the Pancreatic Cancer Case-Control Consortium (PanC4),
                      including 8,769 cases and 7,055 controls of European
                      ancestry. Six single nucleotide polymorphisms (SNPs) showed
                      associations with pancreatic cancer risk according to a
                      recessive model of inheritance. We replicated these variants
                      in 3,212 cases and 3,470 controls collected from the
                      PANcreatic Disease ReseArch (PANDoRA) consortium. The
                      results of the meta-analyses confirmed that rs4626538
                      (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31)
                      showed specific recessive effects (p<10-5) compared with the
                      additive effects (p>10-3), although none of the six SNPs
                      reached the conventional threshold for genome-wide
                      significance (p < 5×10-8). Additional bioinformatic
                      analysis explored the functional annotations of the SNPs and
                      indicated a possible relationship between rs36018702 and
                      expression of the BCL2L11 and BUB1 genes, which are known to
                      be involved in pancreatic biology. Our findings, while not
                      conclusive, indicate the importance of considering
                      non-additive genetic models when performing GWAS analysis.
                      The SNPs associated with pancreatic cancer in this study
                      could be used for further meta-analysis for recessive
                      association of SNPs and pancreatic cancer risk and might be
                      a useful addiction to improve the performance of polygenic
                      risk scores.},
      keywords     = {genetic polymorphisms (Other) / genome-wide association
                      study (Other) / pancreatic cancer (Other) / recessive model
                      (Other) / susceptibility (Other)},
      cin          = {C055 / C070 / C120 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C055-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34926279},
      pmc          = {pmc:PMC8678088},
      doi          = {10.3389/fonc.2021.771312},
      url          = {https://inrepo02.dkfz.de/record/178220},
}